chr1:63049819:G>A Detail (hg19) (DOCK7)

Information

Genome

Assembly Position
hg19 chr1:63,049,819-63,049,819
hg38 chr1:62,584,148-62,584,148 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001271999.1:c.1801-894C>T
NM_001272000.1:c.1801-894C>T
NM_033407.3:c.1801-894C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.148
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 615730 OMIM
HGNC 19190 HGNC
Ensembl ENSG00000116641 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1756817 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-03-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Coronary heart disease SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as tota... BeFree 21804106 Detail
0.182 Coronary heart disease SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as tota... BeFree 21804106 Detail
0.065 Coronary heart disease SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as tota... BeFree 21804106 Detail
0.003 Coronary heart disease SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as tota... BeFree 21804106 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001367561.1(DOCK7):c.1801-894C>T AND not provided ClinVar Detail
SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholester... DisGeNET Detail
SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholester... DisGeNET Detail
SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholester... DisGeNET Detail
SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholester... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12042319 dbSNP
Genome
hg19
Position
chr1:63,049,819-63,049,819
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs12042319
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1482
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2483
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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